Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.040 | 1.000 | 4 | 2015 | 2018 | ||||
|
2 | 0.925 | 0.160 | 6 | 43770758 | missense variant | C/G;T | snv | 2.0E-05; 9.8E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
4 | 0.851 | 0.280 | 6 | 43770057 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
3 | 0.882 | 0.240 | 6 | 43781373 | non coding transcript exon variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.160 | 6 | 43781426 | non coding transcript exon variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.240 | 6 | 43783622 | non coding transcript exon variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 43783932 | non coding transcript exon variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.200 | 6 | 43777592 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.160 | 6 | 43777546 | missense variant | C/G | snv | 1.2E-05 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
11 | 0.776 | 0.440 | 6 | 43774889 | non coding transcript exon variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2018 | 2018 |